Canonical Allele Identifier: CA2630960175

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362311-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362313dup , CM000678.2:g.1362313dup	GRCh38
NC_000016.9:g.1412314dup , CM000678.1:g.1412314dup	GRCh37
NC_000016.8:g.1352315dup	NCBI36
NG_016985.1:g.15415dup
NG_033129.1:g.57393dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.618dup
ENST00000529110.2:c.603dup	ENSP00000435349.2:p.Leu203AlafsTer24
ENST00000529957.6:n.577dup
ENST00000683366.1:c.*251dup	ENSP00000507283.1:n.*251dup
ENST00000683887.1:c.567dup	ENSP00000506886.1:p.Leu191AlafsTer24
ENST00000684100.1:n.513dup
ENST00000684126.1:n.577dup
ENST00000684688.1:n.1144dup
ENST00000204679.9:c.519dup MANE Select	ENSP00000204679.4:p.Leu175AlafsTer24
ENST00000204679.8:c.519dup	ENSP00000204679.4:p.Leu175AlafsTer24
ENST00000527076.1:n.1535dup
ENST00000527168.5:n.555dup
ENST00000529957.5:n.618dup
NM_032520.4:c.519dup	NP_115909.1:p.Leu175AlafsTer24
XM_017023782.1:c.567dup	XP_016879271.1:p.Leu191AlafsTer24
XM_017023783.1:c.159dup	XP_016879272.1:p.Leu55AlafsTer24
NM_032520.5:c.519dup MANE Select	NP_115909.1:p.Leu175AlafsTer24